Katherine R. Chao

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Konrad J. Karczewski, Matthew Solomonson, Katherine R. Chao et al. · Cell Genomics · 2022 · 295 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

The Genetic Landscape of Diamond-Blackfan Anemia

Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian et al. · The American Journal of Human Genetics · 2018 · 270 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 188 citations · Full text

Public Health, Biomedical Informatics, Health Informatics +13

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17